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Familial amyloid polyneuropathy

MedGen UID:
104815
•Concept ID:
C0206245
•
Disease or Syndrome
Synonyms: Amyloid Neuropathies, Familial; Amyloid Neuropathy, Familial; Amyloid Polyneuropathies, Familial; Amyloid Polyneuropathy, Familial; Amyloidoses, Hereditary Neuropathic; Amyloidosis, Hereditary Neuropathic; Familial Amyloid Neuropathies; Familial Amyloid Neuropathy; Familial Amyloid Polyneuropathies; Familial Amyloid Polyneuropathy; Hereditary Neuropathic Amyloidoses; Hereditary Neuropathic Amyloidosis; Neuropathic Amyloidoses, Hereditary; Neuropathic Amyloidosis, Hereditary; Neuropathies, Familial Amyloid; Neuropathy, Familial Amyloid; Polyneuropathies, Familial Amyloid; Polyneuropathy, Familial Amyloid
SNOMED CT: Neuropathic heredofamilial amyloidosis (42295001); Familial neuropathic amyloidosis (42295001); Familial amyloid polyneuropathy (42295001); AF type amyloidosis (42295001); Familial polyneuropathic amyloidosis (42295001)

Definition

A rare inherited neuropathy characterized by deposition of amyloid in the peripheral nerves. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial amyloid polyneuropathy

Professional guidelines

PubMed

Preimplantation genetic testing for familial amyloid polyneuropathy.
Sousa M
Reprod Health 2022 Nov 19;19(1):210. doi: 10.1186/s12978-022-01491-x. PMID: 36401333Free PMC Article
Pharmacological treatment for familial amyloid polyneuropathy.
Magrinelli F, Fabrizi GM, Santoro L, Manganelli F, Zanette G, Cavallaro T, Tamburin S
Cochrane Database Syst Rev 2020 Apr 20;4(4):CD012395. doi: 10.1002/14651858.CD012395.pub2. PMID: 32311072Free PMC Article
Diagnosis and management of sensory polyneuropathy.
Gwathmey KG, Pearson KT
BMJ 2019 May 8;365:l1108. doi: 10.1136/bmj.l1108. PMID: 31068323

Recent clinical studies

Etiology

Diagnosis and management of sensory polyneuropathy.
Gwathmey KG, Pearson KT
BMJ 2019 May 8;365:l1108. doi: 10.1136/bmj.l1108. PMID: 31068323
Neuropathy.
Pisciotta C, Shy ME
Handb Clin Neurol 2018;148:653-665. doi: 10.1016/B978-0-444-64076-5.00042-9. PMID: 29478606
Transthyretin familial amyloid polyneuropathy: an update.
Plante-Bordeneuve V
J Neurol 2018 Apr;265(4):976-983. Epub 2017 Dec 16 doi: 10.1007/s00415-017-8708-4. PMID: 29249054
Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial.
Coelho T, Maia LF, Martins da Silva A, Waddington Cruz M, Planté-Bordeneuve V, Lozeron P, Suhr OB, Campistol JM, Conceição IM, Schmidt HH, Trigo P, Kelly JW, Labaudinière R, Chan J, Packman J, Wilson A, Grogan DR
Neurology 2012 Aug 21;79(8):785-92. Epub 2012 Jul 25 doi: 10.1212/WNL.0b013e3182661eb1. PMID: 22843282Free PMC Article
Familial amyloid polyneuropathy.
Planté-Bordeneuve V, Said G
Lancet Neurol 2011 Dec;10(12):1086-97. doi: 10.1016/S1474-4422(11)70246-0. PMID: 22094129

Diagnosis

Neuropathy Associated with Systemic Amyloidosis.
Kaku M, Berk JL
Semin Neurol 2019 Oct;39(5):578-588. Epub 2019 Oct 22 doi: 10.1055/s-0039-1688994. PMID: 31639841
Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease.
Adams D, Koike H, Slama M, Coelho T
Nat Rev Neurol 2019 Jul;15(7):387-404. Epub 2019 Jun 17 doi: 10.1038/s41582-019-0210-4. PMID: 31209302
Diagnosis and management of sensory polyneuropathy.
Gwathmey KG, Pearson KT
BMJ 2019 May 8;365:l1108. doi: 10.1136/bmj.l1108. PMID: 31068323
Neuropathy.
Pisciotta C, Shy ME
Handb Clin Neurol 2018;148:653-665. doi: 10.1016/B978-0-444-64076-5.00042-9. PMID: 29478606
Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments.
Sekijima Y
J Neurol Neurosurg Psychiatry 2015 Sep;86(9):1036-43. Epub 2015 Jan 20 doi: 10.1136/jnnp-2014-308724. PMID: 25604431

Therapy

Pharmacological treatment for familial amyloid polyneuropathy.
Magrinelli F, Fabrizi GM, Santoro L, Manganelli F, Zanette G, Cavallaro T, Tamburin S
Cochrane Database Syst Rev 2020 Apr 20;4(4):CD012395. doi: 10.1002/14651858.CD012395.pub2. PMID: 32311072Free PMC Article
Diagnosis and management of sensory polyneuropathy.
Gwathmey KG, Pearson KT
BMJ 2019 May 8;365:l1108. doi: 10.1136/bmj.l1108. PMID: 31068323
Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments.
Sekijima Y
J Neurol Neurosurg Psychiatry 2015 Sep;86(9):1036-43. Epub 2015 Jan 20 doi: 10.1136/jnnp-2014-308724. PMID: 25604431
Familial amyloid polyneuropathy.
Barreiros AP, Galle PR, Otto G
Dig Dis 2013;31(1):170-4. Epub 2013 Jun 17 doi: 10.1159/000347214. PMID: 23797140
Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial.
Coelho T, Maia LF, Martins da Silva A, Waddington Cruz M, Planté-Bordeneuve V, Lozeron P, Suhr OB, Campistol JM, Conceição IM, Schmidt HH, Trigo P, Kelly JW, Labaudinière R, Chan J, Packman J, Wilson A, Grogan DR
Neurology 2012 Aug 21;79(8):785-92. Epub 2012 Jul 25 doi: 10.1212/WNL.0b013e3182661eb1. PMID: 22843282Free PMC Article

Prognosis

Diagnosis and management of sensory polyneuropathy.
Gwathmey KG, Pearson KT
BMJ 2019 May 8;365:l1108. doi: 10.1136/bmj.l1108. PMID: 31068323
Amyloid neuropathies.
Shin SC, Robinson-Papp J
Mt Sinai J Med 2012 Nov-Dec;79(6):733-48. doi: 10.1002/msj.21352. PMID: 23239211Free PMC Article
Familial amyloid polyneuropathy.
Planté-Bordeneuve V, Said G
Lancet Neurol 2011 Dec;10(12):1086-97. doi: 10.1016/S1474-4422(11)70246-0. PMID: 22094129
Treatment of amyloidosis.
Tan SY, Pepys MB, Hawkins PN
Am J Kidney Dis 1995 Aug;26(2):267-85. doi: 10.1016/0272-6386(95)90647-9. PMID: 7645531
Inherited neuropathies.
Chance PF, Reilly M
Curr Opin Neurol 1994 Oct;7(5):372-80. doi: 10.1097/00019052-199410000-00002. PMID: 7804455

Clinical prediction guides

Hereditary transthyretin amyloidosis: current treatment.
Adams D, Slama M
Curr Opin Neurol 2020 Oct;33(5):553-561. doi: 10.1097/WCO.0000000000000852. PMID: 32796279
Pharmacological treatment for familial amyloid polyneuropathy.
Magrinelli F, Fabrizi GM, Santoro L, Manganelli F, Zanette G, Cavallaro T, Tamburin S
Cochrane Database Syst Rev 2020 Apr 20;4(4):CD012395. doi: 10.1002/14651858.CD012395.pub2. PMID: 32311072Free PMC Article
Familial amyloid polyneuropathy: When does it stop to be asymptomatic and need a treatment?
Adams D, Beaudonnet G, Adam C, Lacroix C, Théaudin M, Cauquil C, Labeyrie C
Rev Neurol (Paris) 2016 Oct;172(10):645-652. Epub 2016 Sep 21 doi: 10.1016/j.neurol.2016.08.007. PMID: 27663057
Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial.
Coelho T, Maia LF, Martins da Silva A, Waddington Cruz M, Planté-Bordeneuve V, Lozeron P, Suhr OB, Campistol JM, Conceição IM, Schmidt HH, Trigo P, Kelly JW, Labaudinière R, Chan J, Packman J, Wilson A, Grogan DR
Neurology 2012 Aug 21;79(8):785-92. Epub 2012 Jul 25 doi: 10.1212/WNL.0b013e3182661eb1. PMID: 22843282Free PMC Article
Treatment of amyloidosis.
Tan SY, Pepys MB, Hawkins PN
Am J Kidney Dis 1995 Aug;26(2):267-85. doi: 10.1016/0272-6386(95)90647-9. PMID: 7645531

Recent systematic reviews

Targeting transthyretin - Mechanism-based treatment approaches and future perspectives in hereditary amyloidosis.
Dohrn MF, Ihne S, Hegenbart U, Medina J, Züchner SL, Coelho T, Hahn K
J Neurochem 2021 Mar;156(6):802-818. Epub 2020 Dec 3 doi: 10.1111/jnc.15233. PMID: 33155274
Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'.
Jennings MJ, Lochmüller A, Atalaia A, Horvath R
J Neuromuscul Dis 2021;8(3):383-400. doi: 10.3233/JND-200546. PMID: 32773395Free PMC Article
Pharmacological treatment for familial amyloid polyneuropathy.
Magrinelli F, Fabrizi GM, Santoro L, Manganelli F, Zanette G, Cavallaro T, Tamburin S
Cochrane Database Syst Rev 2020 Apr 20;4(4):CD012395. doi: 10.1002/14651858.CD012395.pub2. PMID: 32311072Free PMC Article
Characteristics and natural history of autonomic involvement in hereditary ATTR amyloidosis: a systematic review.
Gonzalez-Duarte A, Valdés-Ferrer SI, Cantú-Brito C
Clin Auton Res 2019 Sep;29(Suppl 1):1-9. Epub 2019 Aug 31 doi: 10.1007/s10286-019-00630-y. PMID: 31473866Free PMC Article
Ocular Manifestations and Therapeutic Options in Patients with Familial Amyloid Polyneuropathy: A Systematic Review.
Martins AC, Rosa AM, Costa E, Tavares C, Quadrado MJ, Murta JN
Biomed Res Int 2015;2015:282405. Epub 2015 Oct 19 doi: 10.1155/2015/282405. PMID: 26558262Free PMC Article

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